Linked Data
ClinVar Variation Id:
1441498
ClinVar RCV Id:
RCV001950653
dbSNP Id:
rs753353080
ExAC:
8:87683280 C / T
gnomAD v2:
8-87683280-C-T
gnomAD v3:
8-86671052-C-T
gnomAD v4:
8-86671052-C-T
COSMIC:
COSM2789864
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671052C>T , CM000670.2:g.86671052C>T | GRCh38 |
| NC_000008.10:g.87683280C>T , CM000670.1:g.87683280C>T | GRCh37 |
| NC_000008.9:g.87752396C>T | NCBI36 |
| NG_016980.1:g.77624G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.385G>A MANE Select | ENSP00000316605.5:p.Asp129Asn | |
| ENST00000680314.1:n.146G>A | ||
| ENST00000681746.1:c.385G>A | ENSP00000505959.1:p.Asp129Asn | |
| ENST00000320005.5:c.385G>A | ENSP00000316605.5:p.Asp129Asn | |
| NM_019098.4:c.385G>A | NP_061971.3:p.Asp129Asn | |
| XM_011517138.1:c.-30G>A | XP_011515440.1:n.-30G>A | |
| XM_011517138.2:c.-30G>A | XP_011515440.1:n.-30G>A | |
| NM_019098.5:c.385G>A MANE Select | NP_061971.3:p.Asp129Asn |